Rare Disease Library

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Extensor tendons of finger anomalies

Hapnes-Boman-Skeie syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Fibrodysplasia ossificans progressiva

FOP · Myositis ossificans progressiva

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

FLOTCH syndrome

Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gitelman syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Gorham-Stout disease

Gorham disease · Gorham syndrome

H syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

Haim-Munk syndrome

Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome

Hall-Riggs syndrome

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

Harlequin syndrome

Progressive isolated segmental anhidrosis

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Harrod syndrome

Cranio-facio-digito-genital syndrome

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

Heart-hand syndrome

Atriodigital dysplasia

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

Hinman syndrome

HAS · HS

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Hurler syndrome

Hurler disease · MPS1H

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome